Cep295nl CEP295 N-terminal like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep295nlprovided by MGI
Official Full Name: CEP295 N-terminal likeprovided by MGI
Primary source: MGI:MGI:1929713
See related: Ensembl:ENSMUSG00000076433 AllianceGenome:MGI:1929713
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ddc8; FS39; Kiaa1731nl
Summary: Predicted to enable several functions, including microtubule binding activity; protease binding activity; and zinc ion binding activity. Predicted to be involved in regulation of centriole replication. Located in motile cilium. Is expressed in several structures, including alimentary system; brain; genitourinary system; retina; and spleen. Human ortholog(s) of this gene implicated in Moyamoya disease. Orthologous to several human genes including TIMP2 (TIMP metallopeptidase inhibitor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 85.2) See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.09 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (118223186..118233368, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (118332360..118342542, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show Dcd8 was not testis specific.
Title: Potential regulatory relationship between the nested gene DDC8 and its host gene tissue inhibitor of metalloproteinase-2.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ddc8 (e-PCR), detects polymorphism
- UniSTS:532063

Ddc8 (e-PCR), detects polymorphism
- UniSTS:532064

Ddc8 (e-PCR), detects polymorphism
- UniSTS:532065

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of centriole replication	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CEP295 N-terminal-like protein

Names: KIAA1731 N-terminal like protein; differential display clone 8; protein DDC8; testis specific protein, Ddc8; testis-specific protein DDC8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.